| Pelizaeus-Merzbacher disease |
Pelizaeus-Merzbacher disease (PMD) is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents. The disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering--which acts as an insulator--on nerve fibers in the brain. ...
출처: en.wikipedia.org/wiki/Pelizaeus-Merzbacher_disease
|
|---|---|
| Pelizaeus-Merzbacher d. |
an X-linked leukoencephalopathy, occurring in early life and running a slowly progressive course into adolescence or adulthood. It is marked by nystagmus, ataxia, tremor, choreoathetoid movements, parkinsonian facies, dysarthria, and mental deterioration. Pathologically, there is diffuse demyelination in the white substance of the brain, which may involve the brain stem, cerebellum, and spinal cord. The cause is mutation of the gene on the long arm of the X chromosome that codes for proteolipid protein. Called also Merzbacher-Pelizaeus d., familial centrolobar sclerosis, and Pelizaeus-Merzbacher sclerosis.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
|
| Pelizaeus-Merzbacher s. |
see under disease.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
|